A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Lisenka E. L. M. Vissers*, Kirsten J. M. van Nimwegen, Jolanda H. Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G. Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G. Brunner, Simone van der Burg, Janneke Grutters, Joris A. Veltman, Michel A. A. P. Willemsen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1055-1063
Number of pages9
JournalGenetics in Medicine
Volume19
Issue number9
DOIs
Publication statusPublished - Sep 2017

Keywords

  • diagnostic yield
  • health-care resource use
  • Prospective Clinical Utility Study
  • pediatric neurology
  • whole-exome sequencing
  • INCIDENTAL FINDINGS
  • INTELLECTUAL DISABILITY
  • RARE DISEASES
  • MUTATIONS
  • COST
  • PARTICIPANTS
  • DISORDERS
  • DIAGNOSIS
  • CONSENSUS
  • VARIANTS

Cite this

Vissers, L. E. L. M., van Nimwegen, K. J. M., Schieving, J. H., Kamsteeg, E-J., Kleefstra, T., Yntema, H. G., Pfundt, R., van der Wilt, G. J., Krabbenborg, L., Brunner, H. G., van der Burg, S., Grutters, J., Veltman, J. A., & Willemsen, M. A. A. P. (2017). A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genetics in Medicine, 19(9), 1055-1063. https://doi.org/10.1038/gim.2017.1